BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer
BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer
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中国女性家族性或早发性乳腺癌的 BRCA1 种系突变和肿瘤特征
DOI：
10.1007/s10549-008-0066-6
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发表时间：
2009-09-01
影响因子：
3.8
通讯作者：
Xie, Yuntao
中科院分区：
文献类型：
--
作者：
Chen, Weiqiu;Pan, Kaifeng;Xie, Yuntao
中国家族性乳腺癌患者BRCA 1基因突变的相关数据正在增加。然而，中国北方家族性或早发性乳腺癌患者中BRCA 1突变的频率知之甚少，很少有研究调查中国女性BRCA 1肿瘤的临床病理特征。在这项研究中，我们检测了来自中国北方的139例乳腺癌患者的BRCA 1生殖系突变，这些患者要么有乳腺癌家族史（n= 68），要么在35岁或之前诊断出肿瘤（n= 71）。在该队列中共发现6种有害BRCA 1突变，其中4种（5587-1 del 8、3887 del AG、IVS 21 + 1 delG和2129 ins TG）为新突变，本研究中检测到的1种突变（3478 del 5）仅在中国人群中报告。在该队列中，家族性或早发性乳腺癌女性的BRCA 1突变频率分别为5.9%（4/68）或2.8%（2/71）;但在16例家族性乳腺癌患者中的4例（25.0%）中检测到突变，其肿瘤在40岁之前被诊断。此外，BRCA 1突变肿瘤倾向于高组织学分级，与无BRCA 1突变的肿瘤相比，ER、PgR和Her-2呈阴性。我们的研究表明，具有乳腺癌家族史的中国女性，其肿瘤在40岁之前被诊断为BRCA 1检测的合适候选人;中国女性的BRCA 1肿瘤表现出侵袭性表型。
The data related to BRCA1 germline mutation in Chinese women with familial breast cancer is increasing. However, little is known the frequency of BRCA1 mutations in Chinese women with familial or early-onset breast cancer from Northern China, and few studies are available to investigate the clinicopathological characteristics of BRCA1 tumors in Chinese women. In this study, we detected germline mutations in BRCA1 in a cohort of 139 breast cancer patients who either have a family history of breast cancer (n= 68) or whose tumors are diagnosed at or before the age of 35 (n= 71) from Northern China. A total of 6 deleterious BRCA1 mutations were identified in this cohort, 4 of which (5587-1 del8, 3887 del AG, IVS21 + 1delG, and 2129 ins TG) are novel and one mutation (3478del5) detected in this study was only reported in Chinese population. The frequency of BRCA1 mutations in women with familial or early-onset breast cancer was 5.9% (4/68) or 2.8% (2/71) in this cohort, respectively; but the mutations were detected in 4 of 16(25.0%) familial breast cancer patients whose tumors were diagnosed before the age of 40. Moreover, BRCA1 mutation tumors tended to be high histological grade, and to be negative for ER, PgR, and Her-2 compared with tumors without BRCA1 mutations. Our study suggests that Chinese women with a family history of breast cancer whose tumors are diagnosed before age of 40 would be a suitable candidate for BRCA1 testing; and BRCA1 tumors in Chinese women exhibit an aggressive phenotype.